E43K (p.Glu43Lys) variant of ERBB3 (P21860)
E43K (p.Glu43Lys) in ERBB3 (P21860) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E43K (p.Glu43Lys) variant details
- p.Glu43Lys
- cosmic curated COSV10957
- ExAC rs766147426
- gnomAD rs766147426
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.10
- MetaLR 0.30
- MetaSVM -0.52
- CADD 24.10
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available